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Tricho-Hepato-Enteric Syndrome

What is Tricho-Hepato-Enteric Syndrome?

Tricho-Hepato-Enteric Syndrome (THE) is a rare congenital bowel disorder characterized by intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.

 

Tricho-Hepato-Enteric Syndrome (THE) is a rare congenital bowel disorder characterized by intractable diarrhea in infants with intrauterine growth retardation, hair and facial abnormalities.
Acknowledgement of Tricho-Hepato-Enteric Syndrome has not been added yet.
0.34http://www.ojrd.com/content/3/1/6
Synonyms for Tricho-Hepato-Enteric Syndrome has not been added yet.
THE is thought to be a genetic disorder with an autosomal recessive inheritance pattern. The genes responsible for THE have not been found and the exact cause remains unknown.
Symptoms for Tricho-Hepato-Enteric Syndrome has not been added yet.
Diagnosis of Tricho-Hepato-Enteric Syndrome has not been added yet.
Diagnostic tests of Tricho-Hepato-Enteric Syndrome has not been added yet
Treatments of Tricho-Hepato-Enteric Syndrome has not been added yet.
Prognosis is poor. Historically, patients die before the age of 5 due to infections or cirrhosis. Today, patients can survive with intravenous feeding.
Tips or Suggestions of Tricho-Hepato-Enteric Syndrome has not been added yet.
References of Tricho-Hepato-Enteric Syndrome has not been added yet.
Want to share and compare info Created by Cyarb
Last updated 20 Mar 2013, 09:19 PM

Posted by donna64
20 Mar 2013, 09:19 PM

Hi ShariDHaz It is good to find others in the same situation, helps to not feel alone in the situation. Not sure if you saw in my previous post about my grandsons facebook page. My daughter set it up to help keep family and friends up to date on his progress. If you would like to look its under his name...Blake Jonathan Edward Bowman. He is booked in for another procedure soon to have a tube go directly into the intestine as he has chronic vomitting and they are at a loss as to how to stop it. They put a shunt in his head to take away pressure there in the hope that would be the prob and although it did relieve pressure it didnt help the vomitting.

Posted by ShariDHaz
20 Mar 2013, 12:49 PM

The teams that discovered the gene are in Europe. There were competing teams in France & England looking for the gene. Both teams had our DNA because we had two hospitals working with us. They found the gene at basically the same time. I do know that our geneticist confirmed the diagnosis himself in his lab before telling us so it could likely be done elsewhere if they knew what they were looking for. We are in Canada as I said above. Luckily the tests are covered here. It is exciting for us to connect with other families. If you are interested in sharing details & stories, email me (sharidhaz@gmail.com). I'm all for raising awareness but some things are too personal to publish on the internet.:-) Our daughter is 5.5 & her best weight had been 14.3 kg but she is down to 13.7 kg or so because she loses every time she is sick.

Posted by donna64
20 Mar 2013, 04:39 AM

Cyarb We have been told the test can only be done in France so Blakes Dna has been sent to europe. We are thinking we will have a long wait. The test is not covered here and we will pay for it ourselves but have been told its about 1500 euro. As far as the food goes, Blake refuses to eat anything orally. He was just under 4 kilos at 10 months of age and is now 13 kilos at 2years of age. This has been mostly due to the tpn. He was 970grams at birth. We have set up a fb page for blake to try and get awareness and find others in the same situation. It is Blake Jonathan Edward Bowman. Please feel free to have a look. The more info we can all find the better for the kids. I am assuming you are in the USA.

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SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease.

03/20/2017
Syndromic diarrhea/Tricho-hepato-enteric syndrome

Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. The estimated prevalence is 1/1,000,000 births and the transmission is autosomal recessive. The classical form is characterized by 5 clinical signs: intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production; intrauterine growth restriction. The aetiology is a defect in TTC37, a TPR containing protein, or in the RNA helicase SKIV2L, both constituting the putative human ski complex. The ski complex is a heterotetrameric cofactor of the cytoplasmic RNA exosome which ensures aberrants mRNAs decay. The diagnosis SD/THE is initially based on clinical findings and confirmed by direct sequencing of TTC37 and SKIV2L. Differential diagnosis with the other causes of intractable diarrhea is easily performed by pathologic investigations. During their clinical course, most of the children require parenteral nutrition and often immunoglobulin supplementation. With time, some of them can be weaned off parenteral nutrition and immunoglobulin supplementation. The prognosis depends on the management and is largely related to the occurrence of parenteral nutrition complications or infections. Even with optimal management, most of the children seem to experience failure to thrive and final short stature. Mild mental retardation is observed in half of the cases.

03/20/2017

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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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Want to share and compare info

Created by Cyarb | Last updated 20 Mar 2013, 09:19 PM


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